11/23. umbilical cord ulceration in association with intestinal atresia in a child with deletion 13q and Hirschsprung's disease.The case is reported of a baby boy with an interstitial deletion of the long arm of chromosome 13 who, in addition to the described associations of Hirschsprung's disease and intestinal atresia, had umbilical cord ulceration resulting in massive intrapartum haemorrhage. This case provides support for the existence of a previously reported association between umbilical cord ulceration and intestinal atresia, and suggests that it is aetiologically heterogeneous.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
12/23. tricuspid atresia and annular hypoplasia: report of a familial occurrence.Occurrence of a similar cardiac malformation in multiple family members has been reported for many lesions. Neither tricuspid atresia nor tricuspid annular hypoplasia and tricuspid atresia has been described in multiple members of the same family. We report two cases of tricuspid atresia and one case of tricuspid annular hypoplasia with an atrial septal defect in siblings. The findings in this family suggest an autosomal recessive pattern of inheritance for abnormal tricuspid valve morphogenesis.- - - - - - - - - - ranking = 1.1666666666667keywords = atresia (Clic here for more details about this article) |
13/23. Cytogenetic study of a severe case of Pallister-Killian syndrome using fluorescence in situ hybridization.Usually, the supernumerary isochromosome 12p characterizing Pallister-Killian syndrome patients was detected in cultured skin fibroblasts but not in cultured blood lymphocytes. The proband of this study was a one-day-old female, who presented with major clinical characteristics of the Pallister-Killian syndrome, and had severe malformations in the form of anal atresia, cleft palate, and severe laryngomalacia. Chromosome preparations from cultured blood lymphocytes and skin fibroblasts, as well as buccal smears, from this patient were analyzed by fluorescence in situ hybridization (FISH) using a chromosome 12-specific alpha satellite probe. The proportions of cells showing positive signals for i(12p) in these samples were found to be 20, 62.5, and 70%, respectively. Repeated FISH studies of buccal smears from this patient showed considerable decreases in the proportions of i(12p) containing cells to 40% at one year of age and to 32% at the age of one year and five months. The decline in the percentage of i(12p)-containing cells in buccal smears with aging supports the concept of in vivo loss of the marker during repeated cell division.- - - - - - - - - - ranking = 10.93602615102keywords = anal atresia, atresia (Clic here for more details about this article) |
14/23. choanal atresia in a patient with the deletion (9p) syndrome.We report on a child with choanal atresia and deletion 9p. A review of the literature documented one previous instance of choanal atresia in a patient with del(9p). choanal atresia may be part of the spectrum of malformations in the deletion (9p) syndrome and its presence should prompt a search for this particular deletion as part of the differential diagnosis.- - - - - - - - - - ranking = 76.552183057142keywords = anal atresia, atresia (Clic here for more details about this article) |
15/23. Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to angelman syndrome.Duplications of the proximal long arm of chromosome 15 have been seen in the prader-willi syndrome (PWS), and in subjects without the Prader-Willi phenotype but with other clinical features including short stature, diabetes, anal and jejunal atresia, and acanthosis nigricans. The non-PWS subjects all had different phenotypes despite the identical findings on cytogenetic analysis. A normal phenotype has also been observed in patients with similar duplications. We report a further patient with a duplication of 15q11-13 which was detected cytogenetically and confirmed on molecular genetic analysis. She has developmental delay, particularly concerning the acquisition of speech, and an ataxic gait. These are interesting clinical features in view of the association of angelman syndrome with abnormalities of 15q11-13.- - - - - - - - - - ranking = 0.16666666666667keywords = atresia (Clic here for more details about this article) |
16/23. Mosaic tetrasomy 8p: molecular cytogenetic confirmation and measurement of glutathione reductase and tissue plasminogen activator levels.We report the case of a 5-year-old girl with severe developmental disabilities, skeletal anomalies, hypotonia, rectal atresia, malrotation of the intestine, horseshoe kidney, vesicoureteric reflux, and minor facial anomalies. Conventional cytogenetic techniques suggested that she had a mosaic 46,XX/47,XX, i(8p) constitution, and the identity of the isochromosome was confirmed by in situ hybridization and chromosome painting. Polymorphic dna markers are consistent with the i(8p) having arisen as the result of a segregation error and centromere misdivision at the second maternal meiotic division. The i(8p) was seen in 17/25 (68%) lymphocytes at the age of one month but had declined to 31/100 (31%) cells by the age of 5 years. At this time the i(8p) was seen in 30/68 (44%) cultured skin fibroblasts. The proposita had an approximately twofold increase in red cell glutathione reductase activity but a normal level of tissue-plasminogen activator. These enzyme results are consistent with the known localisation of the glutathione reductase gene on the short arm of chromosome 8 but suggest that the tissue-plasminogen activator gene may map outside this region.- - - - - - - - - - ranking = 0.16666666666667keywords = atresia (Clic here for more details about this article) |
17/23. Fryns syndrome: two further cases without lateral diaphragmatic defects.We report on two unrelated infants with Fryns syndrome but without lateral diaphragmatic defects. In case 1, a female stillborn, pertinent findings included a coarse facies, cleft palate, short neck with a broad pterygium, heart defect, lung hypoplasia, omphalocele, urogenital malformations, anal atresia, and distal digital hypoplasia. Case 2 showed a coarse facies with cleft lip and palate, para-oesophageal hernia with herniation of the stomach into the thoracic cavity, malrotation of the intestine, hydronephrosis, and anal atresia. At age 14 months she was developmentally severely retarded. These observations represent the 11th and 12th reports of probable Fryns syndrome without lateral diaphragmatic defect.- - - - - - - - - - ranking = 21.87205230204keywords = anal atresia, atresia (Clic here for more details about this article) |
18/23. Partial monosomy 10q and partial trisomy 9q with anal atresia due to maternal translocation: t(9;10)(q32;q26).We report a case of a boy with a partial deletion of the long arm of chromosome 10 and partial duplication of the long arm of chromosome 9 due to maternal balanced translocation. The karyotype was 46,XY,-10, der(10)t(9;10)(q32;q26)mat. Our patient had imperforate anus and as this finding is usually not observed in association with trisomy 9q, it suggests that partial monosomy of the long arm of chromosome 10 might be associated with anogenital anomalies.- - - - - - - - - - ranking = 43.744104604081keywords = anal atresia, atresia (Clic here for more details about this article) |
19/23. Interstitial deletion of chromosome 1q [del(1)(q24q25.3)] identified by fluorescence in situ hybridization and gene dosage analysis of apolipoprotein a-ii, coagulation factor v, and antithrombin iii.We report on a 12-month-old Japanese boy with an interstitial deletion of the long-arm of chromosome 1 and meningomyelocele, hydrocephalus, anal atresia, atrial septal defect, left renal agenesis, bilateral cryptorchidism, talipes equinovarus, low birth weight, growth/developmental retardation, and many minor anomalies. By conventional GTG-banding, his karyotype was first interpreted as 46,XY,del(1)(q23q24), but it was corrected as 46,XY.ish del(1)(q24q25.3) by fluorescence in situ hybridization using 11 known cosmid clones as probes. His serum levels of apolipoprotein a-ii (gene symbol: APOA2, previously assigned to 1q21-q23) and coagulation factor v (F5, 1q21-q25) were normal, while serum concentration and activity of antithrombin iii (AT3, 1q23-q25.1) was low. The results indicated that localization of APOA2 and F5 are proximal to the deleted region and AT3 is located within the deletion extent in the patient.- - - - - - - - - - ranking = 10.93602615102keywords = anal atresia, atresia (Clic here for more details about this article) |
20/23. Antley-Bixler syndrome. Description of two new cases and a review of the literature.Antley-Bixler syndrome was first described in 1975, and to date 20 cases have been reported. In addition to brachycephaly, the syndrome is associated with midface hypoplasia, often with choanal stenosis or atresia, bilateral radiohumeral synostosis, multiple joint contractures, femoral bowing and long bone fractures, "pear-shaped" nose, dysplastic ears and, occasionally, urogenital or cardiac defects. survival is closely linked to upper airway obstruction. This, in addition to craniosynostosis, also affects mental prognosis. The cluster of malformations and their severity are variable, and while numerous children have died early from respiratory distress, one third of them are alive and have had quite satisfactory development. With early and effective prevention of respiratory complications and early treatment of craniosynostosis, the overall prognosis can be favorable. The mode of inheritance is probably autosomal recessive, and midtrimester prenatal diagnosis is feasible. genetic counseling depends on accurate prognostic and therapeutic data. We describe two new cases, a 4-year-old boy with unilateral coronal synostosis and radiohumeral synostosis on the same side and an 18-month-old girl with brachycephaly and imperforate anus.- - - - - - - - - - ranking = 0.16666666666667keywords = atresia (Clic here for more details about this article) |
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